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Gamma-glutamylcysteine synthetase deficiency
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Gamma-glutamylcysteine synthetase deficiency

Other Resources UpToDate PubMed

Synopsis

Glutathione deficiency due to gamma-glutamylcysteine synthetase deficiency. An autosomal recessive disease that causes nonspherocytic hemolytic anemia. Extremely rare. Hemolytic anemia is usually not severe. Other findings include hyperreflexia, jaundice, icteric sclera, peripheral neuropathy, splenomegaly, ataxia, dysarthria, biliary calculus, and hepatomegaly. Laboratory results may also show reticulocytosis and elevated bilirubin. Prognosis is difficult to determine due to the condition's extreme rarity.

Codes

ICD10CM:
E72.89 – Other specified disorders of amino-acid metabolism

SNOMEDCT:
36799008 – Glutamate-cysteine ligase deficiency

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References

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Last Updated:01/16/2022
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Gamma-glutamylcysteine synthetase deficiency
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A medical illustration showing key findings of Gamma-glutamylcysteine synthetase deficiency : Hemolytic anemia, Hyperreflexia, Neuropathy peripheral, Reticulocytosis, Splenomegaly, RBC decreased
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